Archives For Genetics

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Family Update:

We are celebrating the two-year anniversary since my daughter’s last cancer. She is following a more frequent version of the Toronto Protocol (the go-to surveillance program for Li-Fraumeni Syndrome). We ride the rollercoaster every three months – so far so good. She survived her recent 10-day vision quest in the mountains with the requisite three-day fast and the close-call bear encounter with the revelation that she will grow old. I cried. Continue Reading…

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In March, like millions of people, I sat enrapt watching the three-night premier of the documentary by Ken Burns, “Cancer: The Emperor of All Maladies.” As you know cancer is very personal to me. I have “battled” and “survived” the diagnoses of multiple tumors for more than twenty years. I am not a doctor or scientist but a “career” cancer patient. I have had different bilateral breast cancers, pancreatic Continue Reading…

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Then

As most of you know, my daughter had another tumor removed last July. This was her second occurrence of leiomyosarcoma. She had a liver resection. Two institutions opined that it could not be determined if it was a new primary tumor or Stage IV as the cells of leiomyosarcoma were exactly the same. She was 6 months shy of her 5-year anniversary.

As a parent, at first I was first in warrior mode, then caregiver mode and then when the dust had settled became completely distraught. I have complex PTSD and this event was a trauma trigger on the magnitude of an 8.0 earthquake collapsing the entire house. I went into the usual grieving over whether she would live or die. I had to wrestle with Can I stand by and watch my daughter die from this? Would I rather be dead? Even after all I had been through, fighting to live, living through my first husband’s death, could I do this again? I asked myself these questions and more. Continue Reading…

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March is Colon Cancer Awareness Month. I don’t know why it is not called Colorectal Awareness Month.

It is only the middle of the month as I write this and the ‘colon’ has been everywhere in my life. I have Li-Fraumeni Syndrome and a predisposition to cancer – basically anywhere – with a multiple family member history of colon cancer and precancerous polyps. The screening protocol for my Syndrome recommends biennial screening with a colonoscopy after age 40 or beginning 10 years before the age of any family member with a history of colon cancer.

So on March 5th I began my FIVE-day prep for my biennial colonoscopy. This was the 4th or 5th time I was Continue Reading…

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As many of you know I have a genetic defect called Li-Fraumeni Syndrome.

Per ‘’Medscape” Li-Fraumeni syndrome (LFS) is a rare autosomal dominant syndrome in which patients are predisposed to cancer. Li-Fraumeni syndrome is characterized by the wide variety of cancer types seen in affected individuals, a young age at onset of malignancies, and the potential for multiple primary sites of cancer during the lifetime of affected individuals.

(see http://emedicine.medscape.com/article/987356-overview)

This past year a group of friends that also are affected by LFS started a non-profit called LivingLFS.org. All of us ‘met’ in a ‘closed’ Facebook support group and then in person last year. It Continue Reading…

Leiomyosarcoma

The wave is coming!

There has been so much going on since my last blog post necessitating my absence. In July, from a biopsy, my daughter was diagnosed with a leiomyosarcoma in her liver. This required finding a liver surgeon to determine if this was operable, while all of her and my usual doctors were on extended vacations. We knew the wave was coming and were trying to strategize how to get to the highest ground to be able to survive the hit. Continue Reading…

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On April 14, 2014, I was very excited when I heard the news that Toms River: A Story of Science and Salvation by Dan Fagin won the 2014 Pulitzer Prize for general nonfiction. That day, I tweeted to congratulate Mr. Fagin and I was excited when he tweeted his reply ‘Thanks’. I tweeted to my followers that this was another win for The Nation of Cancer. The Emperor of All Maladies: A Biography of Cancer by Dr. Siddhartha Mukherjee had just won the same award in 2012! Continue Reading…

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On Saturday January 4, 2014, The New York Times published an opinion piece online in their ‘Sunday Review’ by George Johnson entitled “Why Everyone Seems to Have Cancer”.

I reacted immediately, first just from the title of the piece, which infers, at least to me, a ho-hum reaction to this devastating disease. It also, in my opinion, minimizes the impact of cancer on the population, my population, The Nation of Cancer. I read his piece but would not read the comments since I didn’t want my reaction to be tempered by the contributions of others. That being said, I apologize if my comments are redundant with those already posted.

George Johnson is a former journalist who wrote and published a book The Cancer Chronicles: Unlocking Medicine’s Deepest Mystery in August 2013. I will first say bravo on the press coverage and the possible spike in the sales of this book. But there are ways to promote a book that are community building and ways to promote that are infuriating. His method appears to be the later and I am hoping there is a large backlash.

First of all, his article makes very broad strokes throughout regarding cancer, it’s impact, what has worked, what hasn’t and criticizes a plan for the future.

MY REACTION: Broad subject, simplistic analysis, pessimistic. Continue Reading…

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I just returned home from the Li-Fraumeni Syndrome conference held in Boston this past weekend. Besides the joy of getting together with friends that I know and love and meeting new people, I listened enrapt to the researchers who presented their updates on studying the DNA of humans and even elephants.

Did you know that elephants don’t get cancer? Apparently they have evolved to have 23 pairs of the p53 gene with is the major tumor suppressor of the genome. They have ‘super suppression’ of cancer. Their DNA takes care of what their immune system cannot. This phenomenon has given rise to “Peto’s Paradox’ and is similar in whales. The paradox is that much larger mammals, having many more cells that can mutate, would be expected to have even more incidence of cancer, yet they don’t. They also reproduce less frequently, which may have offered them some protection over the course of millennia. (Kind of makes you wonder if we will eventually become extinct from cancer and our rate of reproduction.)

(see: http://www.nature.com/news/massive-animals-may-hold-secrets-of-cancer-suppression-1.12258)

Dr. Josh Schiffman of the Huntsman Cancer Center in Salt Lake City Utah, who spoke at the conference, is studying the DNA of Asian elephants, and specifically this abundance of p53. He is asking the question: how this may help in correcting the mutated genes and the possibilities for cancer prevention in humans. As a wonk, nerd or whatever, I thoroughly enjoyed the presentations on retrogenes, theories on chromothripsis (see: http://www.nature.com/nature/journal/v470/n7335/fig_tab/470476a_F1.html), telomeres and another new term, ‘sonic hedge hog’ mutations. Continue Reading…